Linked Data
ClinVar Variation Id:
1961063
dbSNP Id:
rs1387621161
gnomAD v3:
X-41474643-C-G
gnomAD v4:
X-41474643-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474643C>G , CM000685.2:g.41474643C>G | GRCh38 |
| NC_000023.10:g.41333896C>G , CM000685.1:g.41333896C>G | GRCh37 |
| NC_000023.9:g.41218840C>G | NCBI36 |
| NG_009112.1:g.32184C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1175C>G | ENSP00000340328.3:p.Ser392Cys | |
| ENST00000378220.3:c.1175C>G MANE Select | ENSP00000367465.2:p.Ser392Cys | |
| ENST00000378220.2:c.1190C>G | ENSP00000367465.1:p.Ser397Cys | |
| ENST00000342595.2:c.1190C>G | ENSP00000340328.2:p.Ser397Cys | |
| ENST00000378220.1:c.1190C>G | ENSP00000367465.1:p.Ser397Cys | |
| NM_022567.2:c.1190C>G | NP_072089.1:p.Ser397Cys | |
| XM_005272632.2:c.1190C>G | XP_005272689.1:p.Ser397Cys | |
| XM_017029709.1:c.1190C>G | XP_016885198.1:p.Ser397Cys | |
| NM_001378477.3:c.1175C>G MANE Select | NP_001365406.2:p.Ser392Cys | |
| NM_022567.3:c.1175C>G | NP_072089.2:p.Ser392Cys |